The coverage report is generated with cacao version 0.2.1, using the following key settings:

  • Genome assembly: grch38

  • Mode: Hereditary cancer

  • Data sources - cancer loci:

  • Alignment quality threshold (MAPQ): 0

  • Alignment filename: SEQC-II_Normal-ready.bam

  • Target regions filename: NA

  • Callability levels (germline):

    • NO_COVERAGE: No coverage (zero sequencing depth)

    • LOW_COVERAGE: Sequencing depth from 1 to 11

    • CALLABLE: Sequencing depth from 12 to 99

    • HIGH_COVERAGE: Sequencing depth above 100

Hereditary cancer - pathogenic loci

Global distribution



## ### Gene distribution



Coverage per variant locus



Callable


Low coverage


No coverage


No coverage

No loci with zero coverage found.

Predictive

No actionable loci of predictive nature with sequencing coverage.

Diagnostic

No actionable loci of diagnostic nature with sequencing coverage.

Prognostic

No actionable loci of prognostic nature with sequencing coverage.